Comprehensive toolkit for independent genetic variant research and hearing loss genetics analysis.
Independent Research Toolkit: This is a comprehensive collection of computational tools used in our STRC variant analysis and hearing loss genetics research. All tools are freely accessible to enable independent genetic variant research.
Total Cost: Claude Opus 4.6 API (~$50-100 for a project like this) + OpenClaw (free, open source). All scientific databases and most analysis tools are free with academic/public access.
Open source AI agent for autonomous research. Downloads files, searches databases, builds analysis pipelines.
Large language model (Anthropic). Powers the AI agent reasoning and scientific analysis.
DNA sequence → multi-modal predictions (chromatin, expression, splicing, contact maps, histone marks). API-based.
Missense variant pathogenicity prediction using protein structure. Immune to pseudogene interference.
Rare variant ensemble learner combining 13 pathogenicity predictors. Threshold ≥0.773 per Pejaver 2022.
NCBI database of genetic variants and their clinical significance. Essential for literature review.
All tools are designed for independent research. Most databases are free with academic access. The complete methodology is documented to enable reproduction by any family facing similar variant uncertainty.